ClinVar Miner

List of variants in gene GPC3 reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
NM_001164617.2(GPC3):c.1228C>T (p.Arg410Ter) rs122453121
NM_001164619.2(GPC3):c.175+32082_175+32094del rs869025181
NM_004484.3(GPC3):c.1292+1G>T rs869025182
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.3(GPC3):c.337+1G>A rs869025183
NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.3(GPC3):c.886T>A (p.Trp296Arg) rs104894854

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